Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview
Pituitary Disease in AIP Mutation-Positive Familial Isolated Pituitary Adenoma (FIPA): A Kindred-Based Overview
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DOI：
10.3390/jcm9062003
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发表时间：
2020-06-01
影响因子：
3.9
通讯作者：
Beckers, Albert
中科院分区：
文献类型：
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作者：
Bilbao Garay, Ismene;Daly, Adrian F.;Beckers, Albert
临床相关的垂体腺瘤发生在一般人群中约1：1000，但只有约5%发生在已知的遗传或家族背景。家族性孤立性垂体腺瘤（FIPA）是垂体腺瘤最重要的遗传背景之一，最常见的遗传原因是芳香烃受体相互作用蛋白（AIP）基因的种系突变，AIP突变导致难以治疗的多发性大腺瘤，大多数是生长激素分泌型肿瘤，但也可能存在所有其他分泌型肿瘤，受累患者的临床特征多变。我们提出了一个概述，目前的理解ofAIP突变相关的垂体疾病，并说明各种关键的临床因素使用的例子，从一个最大的AIP突变阳性的FIPA家庭，其中6个突变影响的成员与垂体疾病已被诊断。我们强调了FIPA和AIP突变的各种临床显著特征，包括与肢端肥大症、泌乳素瘤、中风和无功能垂体腺瘤患者相关的问题。这些AIP突变阳性患者由于其疾病和老年患者的长期结果所面临的挑战进行了讨论。同样，由于AIP突变的激酶中垂体腺瘤的不完全转移而遇到的陷阱也进行了讨论。
Clinically-relevant pituitary adenomas occur in about 1:1000 of the general population, but only about 5% occur in a known genetic or familial setting. Familial isolated pituitary adenomas (FIPA) are one of the most important inherited settings for pituitary adenomas and the most frequent genetic cause is a germline mutation in thearyl hydrocarbon receptor-interacting protein(AIP) gene.AIPmutations lead to young-onset macroadenomas that are difficult to treat. Most are growth hormone secreting tumors, but all other secretory types can exist and the clinical profile of affected patients is variable. We present an overview of the current understanding ofAIPmutation-related pituitary disease and illustrate various key clinical factors using examples from one of the largestAIPmutation-positive FIPA families identified to date, in which six mutation-affected members with pituitary disease have been diagnosed. We highlight various clinically significant features of FIPA andAIPmutations, including issues related to patients with acromegaly, prolactinoma, apoplexy and non-functioning pituitary adenomas. The challenges faced by theseAIPmutation-positive patients due to their disease and the long-term outcomes in older patients are discussed. Similarly, the pitfalls encountered due to incomplete penetrance of pituitary adenomas inAIP-mutated kindreds are discussed.